Spondyloperipheral dysplasia

A condition caused by by truncating mutations in the C-propeptide of COL2A1. Like other type II collagen disorders it is characterized by short stature, platyspondyly and epiphyseal dysplasia. A distinguishing feature is the presence of brachydactyly with a prominent first toe.

Also known as: spondyloperipheral dysplasia, spondyloperipheral dysplasia-short ulna syndrome, spondyloperipheral dysplasia with short ulna

45 clinical trials for this condition and its sub-types.